Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants.
OBJECTIVE
Presentation of complete androgen insensitivity in two members of the same family with differing residual Müllerian tissue.


METHODS
Case report.


METHODS
Rural hospital setting.


METHODS
Two siblings with 46,XY karyotype and female phenotype presented at different points in time with primary amenorrhea. Laparoscopy of sister 1 revealed bilateral elongated gonads and remnants of uterine tissue. Laparoscopy of sister 2 demonstrated both gonads, but no uterus was identified.


METHODS
Sister 1: bilateral gonadectomy and hysterectomy. Sister 2: bilateral gonadectomy.


METHODS
Gonadectomy for cancer prophylaxis, counseling in affected/unaffected family members.


RESULTS
Sister 1: pathology revealed portions of immature testicles and fragments of smooth muscle. Sister 2: pathology reported two testicular and epididymal-like structures with benign Sertoli cell adenomas entirely in testicular parenchyma.


CONCLUSIONS
This case demonstrates the presentation and laparoscopic photos of complete androgen insensitivity syndrome discovered in two siblings. Both girls are genotypically male, but differ in the presence of vestigial Müllerian tissue. This case demonstrates that siblings with androgen resistance may express varying amounts of Müllerian tissue.
Nichols
Jennifer L
JL
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Geisinger Medical Center, Geisinger Health System, Danville, Pennsylvania 17822, USA. jlnichols@geisinger.edu
Bieber
Eric J
EJ
Gell
Jennifer S
JS
D000568:Amenorrhea / Q000235:genetics / Q000601:surgery; D013734:Androgen-Insensitivity Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D005260:Female; D005838:Genotype; D006801:Humans; D007044:Hysterectomy; D007621:Karyotyping; D010535:Laparoscopy; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities / Q000601:surgery*; D009919:Orchiectomy; D010641:Phenotype; D035781:Siblings; D016896:Treatment Outcome